Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.S145F
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ACTG1

NM_001614.5:p.S145F

Associated Papers

A Survey of Predicted Protein-Protein Interactions Involving Disordered Regions in Humans.

Pei J et al.

Journal of Molecular Biology, 2026

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Dawidziuk M et al.

International Journal of Molecular Sciences, 2022

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Sorrentino U et al.

Audiology Research, 2021

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D et al.

Scientific Reports, 2017

29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM2_ESM.xlsx › Feuil1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."